Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values SLC6A9 6536 broad.mit.edu 37 1 44467189 44467189 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:44467189C>T uc001cll.2 - 9 1484 c.1292G>A c.(1291-1293)CGT>CAT p.R431H SLC6A9_uc009vxe.2_Missense_Mutation_p.R287H|SLC6A9_uc010okm.1_Missense_Mutation_p.R358H|SLC6A9_uc001clm.2_Missense_Mutation_p.R377H|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R362H|SLC6A9_uc001cln.2_Missense_Mutation_p.R358H|SLC6A9_uc010oko.1_Missense_Mutation_p.R247H|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 431 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GTCTGCCACACGGGACACATC 0.592000 NRD1 4898 broad.mit.edu 37 1 52260202 52260202 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:52260202C>T uc001ctc.3 - 26 3243 c.2921G>A c.(2920-2922)TGC>TAC p.C974Y NRD1_uc009vzb.2_Missense_Mutation_p.C669Y|NRD1_uc001ctd.3_Missense_Mutation_p.C906Y|NRD1_uc001cte.2_Missense_Mutation_p.C842Y|NRD1_uc001ctf.2_Missense_Mutation_p.C906Y|NRD1_uc010ong.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 905 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 TTTCACTTTGCATAGATGGTG 0.517000 MAGI3 260425 broad.mit.edu 37 1 114201842 114201842 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:114201842A>G uc001edk.2 + 16 2951 c.2770A>G c.(2770-2772)AAA>GAA p.K924E MAGI3_uc001edh.3_Missense_Mutation_p.K949E|MAGI3_uc001edi.3_Missense_Mutation_p.K924E|MAGI3_uc010owm.1_Missense_Mutation_p.K949E|MAGI3_uc001edj.2_Missense_Mutation_p.K645E NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 949 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAGCTGATCAAAGATGCTGG 0.498000 SETDB1 9869 broad.mit.edu 37 1 150936523 150936523 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:150936523A>G uc001evu.2 + 21 3912 c.3722A>G c.(3721-3723)GAT>GGT p.D1241G SETDB1_uc001evv.2_Missense_Mutation_p.D1241G NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1241 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GATACCCATGATCTTCGCTTC 0.522000 ASPM 259266 broad.mit.edu 37 1 197059184 197059184 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:197059184C>T uc001gtu.2 - 25 10117 c.9860G>A c.(9859-9861)TGT>TAT p.C3287Y ASPM_uc001gtv.2_Missense_Mutation_p.C1702Y|ASPM_uc001gtw.3_Missense_Mutation_p.C1135Y NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3287 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CATGTTCTCACAACAAAGTGG 0.353000 PFKFB2 5208 broad.mit.edu 37 1 207243623 207243623 + Splice_Site SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:207243623A>C uc001hfg.2 + 12 1202 c.1093_splice c.e12-2 p.S365_splice PFKFB2_uc010psc.1_Splice_Site_p.S267_splice|PFKFB2_uc001hfh.2_Splice_Site_p.S365_splice|PFKFB2_uc009xcc.2_Splice_Site_p.S323_splice|PFKFB2_uc010psd.1_Splice_Site_p.S179_splice NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) TTCCCTCCACAGTCATACCAG 0.607000 RPS6KC1 26750 broad.mit.edu 37 1 213415558 213415558 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:213415558G>A uc010ptr.1 + 11 2898 c.2739G>A c.(2737-2739)ATG>ATA p.M913I RPS6KC1_uc001hkd.2_Missense_Mutation_p.M901I|RPS6KC1_uc010pts.1_Missense_Mutation_p.M701I|RPS6KC1_uc010ptt.1_Missense_Mutation_p.M701I|RPS6KC1_uc010ptu.1_Missense_Mutation_p.M732I|RPS6KC1_uc010ptv.1_Missense_Mutation_p.M448I|RPS6KC1_uc001hke.2_Missense_Mutation_p.M732I NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 913 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CAGCTGAAATGGTGGTAGCCC 0.418000 VN1R5 317705 broad.mit.edu 37 1 247419489 247419489 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr1:247419489T>G uc010pyu.1 + 1 116 c.116T>G c.(115-117)CTT>CGT p.L39R NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 39 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) ATGATCAAACTTCCTGGTTTT 0.338000 LHPP 64077 broad.mit.edu 37 10 126172767 126172767 + Missense_Mutation SNP C C A rs138019469 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr10:126172767C>A uc001lhs.1 + 2 205 c.185C>A c.(184-186)GCA>GAA p.A62E LHPP_uc001lht.1_Missense_Mutation_p.A62E|LHPP_uc009yai.1_Missense_Mutation_p.A62E NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 62 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) AAGTCCCGGGCAGAGCTGGTG 0.642000 SBF2 81846 broad.mit.edu 37 11 9810669 9810669 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:9810669G>A uc001mib.2 - 35 5057 c.4919C>T c.(4918-4920)ACC>ATC p.T1640I uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.T284I|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1640 Interaction with MTMR2. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GAAAAGGCTGGTGAGAGCATC 0.547000 C11orf84 144097 broad.mit.edu 37 11 63594451 63594451 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:63594451G>A uc001nxt.2 + 6 1222 c.986G>A c.(985-987)CGG>CAG p.R329Q C11orf84_uc001nxu.1_RNA NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 329 0 ATCCGCGTGCGGATGGAGGAG 0.677000 FOLH1B 219595 broad.mit.edu 37 11 89431668 89431668 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:89431668A>C uc001pda.2 + 14 1756 c.1230A>C c.(1228-1230)AAA>AAC p.K410N NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 410 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTGAAAGCAAAGTGGACCCTT 0.473000 FAT3 120114 broad.mit.edu 37 11 92086454 92086454 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:92086454T>C uc001pdj.3 + 1 1193 c.1176T>C c.(1174-1176)GGT>GGC p.G392G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 392 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCCTCCTGGTGTCGTGGTTG 0.408000 TCGA Ovarian(4;0.039) KDM4D 55693 broad.mit.edu 37 11 94731169 94731169 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:94731169T>C uc001pfe.2 + 3 1465 c.633T>C c.(631-633)ACT>ACC p.T211T NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 211 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGCCCAAAACTTGGTATGTGG 0.577000 OR6T1 219874 broad.mit.edu 37 11 123814316 123814316 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:123814316A>G uc010sab.1 - 1 230 c.230T>C c.(229-231)GTG>GCG p.V77A NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTTGGGAACCACAACAGTTAC 0.488000 PRICKLE1 144165 broad.mit.edu 37 12 42858814 42858814 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:42858814C>T uc010skv.1 - 7 1309 c.1022G>A c.(1021-1023)CGG>CAG p.R341Q PRICKLE1_uc001rnl.2_Missense_Mutation_p.R341Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R341Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R341Q NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 341 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) ATCTGCTGACCGGCTGCTCTT 0.512000 PUS7L 83448 broad.mit.edu 37 12 44148392 44148392 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:44148392A>T uc001rnq.3 - 2 1146 c.657T>A c.(655-657)TTT>TTA p.F219L PUS7L_uc001rnr.3_Missense_Mutation_p.F219L|PUS7L_uc001rns.3_Missense_Mutation_p.F219L|PUS7L_uc009zkb.2_Intron NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 219 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CCAAATATTTAAAAAAGTCAA 0.299000 LARP4 113251 broad.mit.edu 37 12 50821557 50821557 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:50821557A>G uc001rwp.1 + 2 175 c.31A>G c.(31-33)AAA>GAA p.K11E LARP4_uc001rwo.1_Missense_Mutation_p.K11E|LARP4_uc001rwq.1_Missense_Mutation_p.K11E|LARP4_uc001rwr.1_Missense_Mutation_p.K11E|LARP4_uc001rws.1_Missense_Mutation_p.K10E|LARP4_uc001rwm.2_Missense_Mutation_p.K11E|LARP4_uc001rwn.2_5'UTR NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 11 nucleotide binding|RNA binding ovary(1) 1 GGTAGCATCTAAAGGAACTGG 0.348000 KRT74 121391 broad.mit.edu 37 12 52964594 52964594 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:52964594G>A uc001sap.1 - 5 915 c.867C>T c.(865-867)CAC>CAT p.H289H NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 289 Rod.|Linker 12. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) TCTCACTGGCGTGAGTCTGGA 0.567000 MGAT4C 25834 broad.mit.edu 37 12 86373791 86373791 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:86373791T>G uc001tai.3 - 8 1963 c.713A>C c.(712-714)AAG>ACG p.K238T MGAT4C_uc001tal.3_Missense_Mutation_p.K238T|MGAT4C_uc001taj.3_Missense_Mutation_p.K238T|MGAT4C_uc001tak.3_Missense_Mutation_p.K238T|MGAT4C_uc010sum.1_Missense_Mutation_p.K262T|MGAT4C_uc001tah.3_Missense_Mutation_p.K238T NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 238 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 AATGACTTTCTTGATGGCAGT 0.358000 MGAT4C 25834 broad.mit.edu 37 12 86383296 86383296 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:86383296A>C uc001tai.3 - 6 1279 c.29T>G c.(28-30)ATT>AGT p.I10S MGAT4C_uc001tal.3_Missense_Mutation_p.I10S|MGAT4C_uc001taj.3_Missense_Mutation_p.I10S|MGAT4C_uc001tak.3_Missense_Mutation_p.I10S|MGAT4C_uc010sum.1_Missense_Mutation_p.I34S|MGAT4C_uc001tah.3_Missense_Mutation_p.I10S NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 10 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TATTTCAAAAATATGTTTCAT 0.308000 C12orf51 283450 broad.mit.edu 37 12 112685929 112685929 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:112685929G>A uc009zwc.2 - 20 2942 c.2924C>T c.(2923-2925)GCC>GTC p.A975V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CCCCTGCATGGCATCATCAAC 0.328000 MORN3 283385 broad.mit.edu 37 12 122091042 122091042 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr12:122091042C>A uc001uax.2 - 4 758 c.587G>T c.(586-588)GGG>GTG p.G196V MORN3_uc001uay.2_Intron NM_173855 NP_776254 Q6PF18 MORN3_HUMAN MORN repeat containing 3 196 MORN 7. 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) GATCATCGTCCCGCATTTGGC 0.617000 EDNRB 1910 broad.mit.edu 37 13 78492471 78492471 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr13:78492471A>G uc001vko.2 - 1 496 c.238T>C c.(238-240)TCT>CCT p.S80P uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.S80P|EDNRB_uc010aez.1_Missense_Mutation_p.S80P|EDNRB_uc001vkp.1_Missense_Mutation_p.S163P|EDNRB_uc010afa.1_Missense_Mutation_p.S80P NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 80 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CGTGGCGGAGATCCTGCCGTC 0.592000 OR4M1 441670 broad.mit.edu 37 14 20248768 20248768 + Missense_Mutation SNP G G C rs62619918 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr14:20248768G>C uc010tku.1 + 1 287 c.287G>C c.(286-288)GGA>GCA p.G96A NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTTTGGTGGATGCATTGCA 0.468000 DLGAP5 9787 broad.mit.edu 37 14 55655676 55655676 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr14:55655676C>T uc001xbs.2 - 2 439 c.222G>A c.(220-222)AAG>AAA p.K74K DLGAP5_uc001xbt.2_Silent_p.K74K NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 74 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 TAACATTGGTCTTTTCTGGAA 0.348000 FOXN3 1112 broad.mit.edu 37 14 89878584 89878584 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr14:89878584C>T uc001xxo.3 - 2 374 c.237G>A c.(235-237)TCG>TCA p.S79S FOXN3_uc001xxn.3_Silent_p.S79S|FOXN3_uc010atk.2_Silent_p.S79S|FOXN3_uc001xxp.2_Silent_p.S79S NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 79 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.S79L(1) skin(2)|ovary(1) 3 TCCTGAGGACCGACTCCCCAA 0.587000 LGMN 5641 broad.mit.edu 37 14 93176169 93176169 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr14:93176169C>T uc001yav.2 - 12 1194 c.868G>A c.(868-870)GCC>ACC p.A290T LGMN_uc001yat.2_Missense_Mutation_p.A290T|LGMN_uc001yau.2_Missense_Mutation_p.A290T|LGMN_uc001yaw.2_Missense_Mutation_p.A290T|LGMN_uc010aul.2_Missense_Mutation_p.A171T|LGMN_uc001yax.2_Missense_Mutation_p.A290T|LGMN_uc001yay.2_Missense_Mutation_p.A290T NM_001008530 NP_001008530 Q99538 LGMN_HUMAN legumain preproprotein 290 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity skin(1) 1 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GGAGAACTGGCTTTGCGTTTC 0.433000 KIAA1409 57578 broad.mit.edu 37 14 94088466 94088466 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr14:94088466C>T uc001ybv.1 + 28 4505 c.4422C>T c.(4420-4422)AGC>AGT p.S1474S KIAA1409_uc001ybs.1_Silent_p.S1452S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1629 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CCTCCGACAGCGACTCTCTTG 0.493000 CSPG4 1464 broad.mit.edu 37 15 75974714 75974714 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr15:75974714G>A uc002baw.2 - 8 4963 c.4870C>T c.(4870-4872)CGG>TGG p.R1624W NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1624 Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGGGGGCCCCGCACCACACGG 0.662000 ZNF710 374655 broad.mit.edu 37 15 90617399 90617399 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr15:90617399C>T uc002bov.1 + 4 1825 c.1702C>T c.(1702-1704)CTG>TTG p.L568L NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 568 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) CCACATGCACCTGCACGCCGG 0.577000 ALDH1A3 220 broad.mit.edu 37 15 101445802 101445802 + Silent SNP C C T rs113661159 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr15:101445802C>T uc002bwn.3 + 10 1247 c.1143C>T c.(1141-1143)TGC>TGT p.C381C ALDH1A3_uc010bpb.2_Silent_p.C274C|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 381 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGCTGGAATGCGGGGGCTCAG 0.498000 ZNF768 79724 broad.mit.edu 37 16 30536081 30536081 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr16:30536081G>A uc002dyk.3 - 2 1556 c.1380C>T c.(1378-1380)CCC>CCT p.P460P ZNF768_uc010vex.1_Silent_p.P429P|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.P429P NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 460 C2H2-type 8. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TGCCGCAGTCGGGGCAGCTGT 0.682000 CDH11 1009 broad.mit.edu 37 16 65016134 65016134 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr16:65016134T>G uc002eoi.2 - 8 1504 c.1070A>C c.(1069-1071)AAG>ACG p.K357T CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 357 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTGATAAACTTCGGGTCGAT 0.478000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) PSKH1 5681 broad.mit.edu 37 16 67961298 67961298 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr16:67961298G>C uc002euv.2 + 3 1198 c.1028G>C c.(1027-1029)CGT>CCT p.R343P NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 343 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) CCTGGAGCCCGTATGACTGCA 0.582000 SLC7A6 9057 broad.mit.edu 37 16 68325560 68325560 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr16:68325560T>G uc002evt.1 + 8 1327 c.1018T>G c.(1018-1020)TCA>GCA p.S340A SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S340A|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 340 Cytoplasmic (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CTTTGCTTCATCAAGGTACTG 0.478000 KIAA0664 23277 broad.mit.edu 37 17 2604521 2604521 + Missense_Mutation SNP G G T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:2604521G>T uc002fuy.1 - 7 910 c.824C>A c.(823-825)CCC>CAC p.P275H KIAA0664_uc002fux.1_Missense_Mutation_p.P207H NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 275 binding breast(2) 2 TAGGAAGCGGGGGCTGGCGGG 0.607000 TMEM95 339168 broad.mit.edu 37 17 7258584 7258584 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:7258584C>T uc002ggh.1 + 1 88 c.61C>T c.(61-63)CGC>TGC p.R21C TMEM95_uc002ggf.1_Missense_Mutation_p.R21C|TMEM95_uc002ggg.1_Missense_Mutation_p.R21C NM_198154 NP_937797 Q3KNT9 TMM95_HUMAN transmembrane protein 95 21 Extracellular (Potential). integral to membrane 0 Prostate(122;0.173) TGTCTTCTGTCGCCTCCCAGC 0.672000 CDK12 51755 broad.mit.edu 37 17 37650864 37650864 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:37650864G>A uc010cvv.2 + 5 2922 c.2336G>A c.(2335-2337)CGT>CAT p.R779H CDK12_uc010wef.1_Missense_Mutation_p.R778H|CDK12_uc002hrw.3_Missense_Mutation_p.R779H NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 779 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 AAAATCCTTCGTCAGTTAatc 0.279000 TCGA Ovarian(9;0.13) EFTUD2 9343 broad.mit.edu 37 17 42937799 42937799 + Splice_Site SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:42937799C>A uc002ihn.2 - 17 1980 c.1719_splice c.e17+1 p.E573_splice EFTUD2_uc010wje.1_Splice_Site_p.E538_splice|EFTUD2_uc010wjf.1_Splice_Site_p.E563_splice NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) AGAAACTCTACCTCCTCATTG 0.502000 LRRC59 55379 broad.mit.edu 37 17 48462540 48462540 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:48462540G>A uc002iqt.2 - 6 769 c.615C>T c.(613-615)GCC>GCT p.A205A NM_018509 NP_060979 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 205 Potential.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding central_nervous_system(1) 1 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CTGCTTTGAGGGCATCATACT 0.557000 EXOC7 23265 broad.mit.edu 37 17 74081411 74081411 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:74081411G>A uc002jqs.2 - 16 1944 c.1849C>T c.(1849-1851)CAG>TAG p.Q617* EXOC7_uc002jqp.1_5'Flank|EXOC7_uc010dgv.1_Nonsense_Mutation_p.Q491*|EXOC7_uc002jqq.2_Nonsense_Mutation_p.Q566*|EXOC7_uc010wsw.1_Nonsense_Mutation_p.Q589*|EXOC7_uc010wsx.1_Nonsense_Mutation_p.Q558*|EXOC7_uc002jqr.2_Nonsense_Mutation_p.Q535*|EXOC7_uc010wsv.1_Nonsense_Mutation_p.Q538* NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 617 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) TGGTAGGTCTGGATCTGCTGC 0.627000 SEC14L1 6397 broad.mit.edu 37 17 75196749 75196749 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:75196749G>A uc002jto.2 + 9 1270 c.1003G>A c.(1003-1005)GAC>AAC p.D335N SEC14L1_uc010dhc.2_Missense_Mutation_p.D335N|SEC14L1_uc010wth.1_Missense_Mutation_p.D335N|SEC14L1_uc002jtm.2_Missense_Mutation_p.D335N|SEC14L1_uc010wti.1_Missense_Mutation_p.D301N NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 335 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding ovary(2) 2 GCATCATCACGACAAAGGTAC 0.507000 PTPRM 5797 broad.mit.edu 37 18 8113545 8113545 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:8113545T>G uc002knn.3 + 12 2421 c.1918T>G c.(1918-1920)TTA>GTA p.L640V PTPRM_uc010dkv.2_Missense_Mutation_p.L640V|PTPRM_uc010wzl.1_Missense_Mutation_p.L427V NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 640 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GACAGAAATCTTAAAGTGCTA 0.403000 KLHL14 57565 broad.mit.edu 37 18 30260165 30260165 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:30260165G>A uc002kxm.1 - 7 1943 c.1555C>T c.(1555-1557)CGC>TGC p.R519C KLHL14_uc010dmd.1_Missense_Mutation_p.R68C NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 519 cytosol|endoplasmic reticulum membrane ovary(1) 1 GCATACAAGCGATCATTCATT 0.378000 C18orf34 374864 broad.mit.edu 37 18 30847015 30847015 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:30847015T>G uc002kxn.2 - 13 1416 c.1274A>C c.(1273-1275)AAA>ACA p.K425T C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Missense_Mutation_p.K425T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K425T|C18orf34_uc002kxp.2_Missense_Mutation_p.K425T NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 425 ovary(1) 1 CCATGTTTTTTTCTTTAAGAA 0.264000 NOL4 8715 broad.mit.edu 37 18 31538236 31538236 + Silent SNP G G A rs141277558 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:31538236G>A uc010dmi.2 - 7 1432 c.1203C>T c.(1201-1203)GAC>GAT p.D401D NOL4_uc010xbs.1_Silent_p.D116D|NOL4_uc002kxr.3_Silent_p.D237D|NOL4_uc010xbt.1_Silent_p.D327D|NOL4_uc010dmh.2_Silent_p.D327D|NOL4_uc010xbu.1_Silent_p.D401D|NOL4_uc002kxt.3_Silent_p.D401D|NOL4_uc010xbv.1_Silent_p.D150D|NOL4_uc010xbw.1_Silent_p.D287D NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 401 nucleolus RNA binding ovary(3) 3 CTTCAACGCCGTCTGTCTCAT 0.483000 C18orf25 147339 broad.mit.edu 37 18 43843012 43843012 + Silent SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:43843012T>C uc002lbw.2 + 6 1525 c.1146T>C c.(1144-1146)ACT>ACC p.T382T C18orf25_uc002lbx.2_Silent_p.T321T NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 381 central_nervous_system(2) 2 CCCAGCAGACTTGGGCTTCAC 0.488000 DCC 1630 broad.mit.edu 37 18 50731602 50731602 + Silent SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr18:50731602A>G uc002lfe.1 + 10 2177 c.1590A>G c.(1588-1590)CCA>CCG p.P530P DCC_uc010xdr.1_Silent_p.P378P|DCC_uc010dpf.1_Silent_p.P185P NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 530 Extracellular (Potential).|Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCCAGGGCCAGTAGAAAACC 0.378000 MAP2K7 5609 broad.mit.edu 37 19 7977228 7977228 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:7977228C>T uc002mit.2 + 11 1237 c.1172C>T c.(1171-1173)GCG>GTG p.A391V MAP2K7_uc002miv.2_Missense_Mutation_p.A398V|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A398V|MAP2K7_uc010dvv.2_Missense_Mutation_p.A266V NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 391 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GTGGACGTGGCGTCCTGGTTC 0.642000 MUC16 94025 broad.mit.edu 37 19 9010689 9010689 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:9010689A>C uc002mkp.2 - 38 39176 c.38972T>G c.(38971-38973)CTT>CGT p.L12991R MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12993 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAGGTCCCAAGGTCCACTGT 0.517000 ZNF44 51710 broad.mit.edu 37 19 12383467 12383467 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:12383467T>C uc010xmj.1 - 5 1952 c.1747A>G c.(1747-1749)AAG>GAG p.K583E ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.K535E NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 583 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CTGCATTGCTTACATTCATAT 0.403000 NCAN 1463 broad.mit.edu 37 19 19349171 19349171 + Silent SNP C C T rs146079504 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:19349171C>T uc002nlz.2 + 11 3459 c.3360C>T c.(3358-3360)TCC>TCT p.S1120S NCAN_uc010ecc.1_Silent_p.S684S|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1120 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCCGCCGCTCCGGCCACCTGA 0.652000 ZNF790 388536 broad.mit.edu 37 19 37314605 37314605 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:37314605C>T uc002oew.2 - 3 216 c.97G>A c.(97-99)GTG>ATG p.V33M uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCCAACATCACATCTCTATAT 0.408000 RYR1 6261 broad.mit.edu 37 19 38983186 38983186 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:38983186C>T uc002oit.2 + 38 6314 c.6184C>T c.(6184-6186)CGC>TGC p.R2062C RYR1_uc002oiu.2_Missense_Mutation_p.R2062C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2062 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGGGCAGCCGCCTCATGAG 0.522000 ZNF836 162962 broad.mit.edu 37 19 52658985 52658985 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr19:52658985A>T uc010ydi.1 - 5 2325 c.1951T>A c.(1951-1953)TCA>ACA p.S651T ZNF836_uc010ydj.1_Missense_Mutation_p.S651T NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 651 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCTAGGCATGAGTAGTAACTG 0.413000 TPO 7173 broad.mit.edu 37 2 1488506 1488506 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:1488506G>A uc002qww.2 + 9 1568 c.1477G>A c.(1477-1479)GGC>AGC p.G493S TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.G493S|TPO_uc002qwr.2_Missense_Mutation_p.G493S|TPO_uc002qwx.2_Missense_Mutation_p.G493S|TPO_uc010yio.1_Missense_Mutation_p.G320S|TPO_uc010yip.1_Missense_Mutation_p.G493S|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 493 Extracellular (Potential). G -> S (in TDH2A). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTTCCGCTTCGGCCATGCCAC 0.652000 APOB 338 broad.mit.edu 37 2 21229171 21229171 + Silent SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:21229171G>C uc002red.2 - 26 10697 c.10569C>G c.(10567-10569)TCC>TCG p.S3523S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3523 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGTGCTCTTGGAATTCAAGT 0.433000 ADD2 119 broad.mit.edu 37 2 70933534 70933534 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:70933534C>T uc002sgz.2 - 3 472 c.7G>A c.(7-9)GAA>AAA p.E3K ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.E3K|ADD2_uc002sha.2_Missense_Mutation_p.E3K|ADD2_uc002sgx.2_Missense_Mutation_p.E3K|ADD2_uc010fdt.1_Missense_Mutation_p.E3K|ADD2_uc002shc.1_Missense_Mutation_p.E3K|ADD2_uc002shd.1_Missense_Mutation_p.E3K|ADD2_uc010fdu.1_Missense_Mutation_p.E19K NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 3 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 ACCGTCTCTTCGCTCATTTTC 0.617000 C2orf65 130951 broad.mit.edu 37 2 74867167 74867167 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:74867167A>G uc002smy.2 - 2 353 c.236T>C c.(235-237)TTT>TCT p.F79S C2orf65_uc010ysa.1_Missense_Mutation_p.F79S|C2orf65_uc002smz.2_Missense_Mutation_p.F79S NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 79 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 ACTTACCACAAAAGGGAGGAT 0.274000 LRP1B 53353 broad.mit.edu 37 2 141625236 141625236 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:141625236T>G uc002tvj.1 - 27 5474 c.4502A>C c.(4501-4503)CAG>CCG p.Q1501P LRP1B_uc010fnl.1_Missense_Mutation_p.Q683P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1501 Extracellular (Potential).|LDL-receptor class B 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTGACATTCTGCCCTGTCCA 0.478000 TSP Lung(27;0.18) BAZ2B 29994 broad.mit.edu 37 2 160176909 160176909 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:160176909A>G uc002uao.2 - 37 6726 c.6374T>C c.(6373-6375)TTT>TCT p.F2125S BAZ2B_uc002uap.2_Missense_Mutation_p.F2089S NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 2125 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ATCTAGAGCAAAGGTTTCAAG 0.338000 CALCRL 10203 broad.mit.edu 37 2 188210976 188210976 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:188210976A>C uc002upv.3 - 15 1869 c.1321T>G c.(1321-1323)TTA>GTA p.L441V CALCRL_uc010frt.2_Missense_Mutation_p.L441V NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 441 Cytoplasmic (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTTCCATTTAAGTGTTCACTA 0.358000 IQCA1 79781 broad.mit.edu 37 2 237405873 237405873 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:237405873A>T uc002vvz.1 - 2 451 c.269T>A c.(268-270)ATG>AAG p.M90K IQCA1_uc002vwb.2_Missense_Mutation_p.M97K|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.M90K NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 90 ATP binding ovary(1) 1 CAGCTCCACCATCTCGTTCTT 0.507000 MLPH 79083 broad.mit.edu 37 2 238449573 238449573 + Silent SNP C C G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr2:238449573C>G uc002vwt.2 + 11 1646 c.1419C>G c.(1417-1419)GCC>GCG p.A473A MLPH_uc002vws.2_Silent_p.A330A|MLPH_uc010fyt.1_Silent_p.A445A|MLPH_uc002vwu.2_Silent_p.A445A|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Silent_p.A329A|MLPH_uc010fyu.2_Silent_p.A225A NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 473 Potential. metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) CAGTGACGGCCTCAGAAGTCC 0.592000 GART 2618 broad.mit.edu 37 21 34876432 34876432 + Nonstop_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr21:34876432C>A uc002yrx.2 - 22 3167 c.3032G>T c.(3031-3033)TGA>TTA p.*1011L GART_uc002yrz.2_Nonstop_Mutation_p.*1011L|GART_uc010gmd.2_Nonstop_Mutation_p.*673L|GART_uc002yry.2_Nonstop_Mutation_p.*1011L NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 1011 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) TAAAAGGCTTCATTCCTCTTT 0.403000 DSCAM 1826 broad.mit.edu 37 21 41450635 41450635 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr21:41450635C>T uc002yyq.1 - 26 5142 c.4690G>A c.(4690-4692)GCT>ACT p.A1564T DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1564 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTCAGCGTAGCGAAGTTGGCC 0.592000 HACL1 26061 broad.mit.edu 37 3 15613246 15613246 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:15613246G>A uc003caf.2 - 12 1184 c.1024C>T c.(1024-1026)CAG>TAG p.Q342* HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Nonsense_Mutation_p.Q315*|HACL1_uc011avt.1_Intron|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Nonsense_Mutation_p.Q260*|HACL1_uc010hep.2_Nonsense_Mutation_p.Q101* NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 342 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 GGAGGATACTGCCATGGTGTT 0.343000 NEK10 152110 broad.mit.edu 37 3 27216205 27216205 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:27216205G>A uc010hfk.2 - 6 790 c.561C>T c.(559-561)GAC>GAT p.D187D NEK10_uc003cds.1_Silent_p.D272D|NEK10_uc010hfj.2_Silent_p.D187D Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 875 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 CCCTGTCTTCGTCTTTACCAT 0.512000 KBTBD5 131377 broad.mit.edu 37 3 42733380 42733380 + Silent SNP C C T rs142843476 by1000genomes TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:42733380C>T uc003clv.1 + 6 1861 c.1761C>T c.(1759-1761)AAC>AAT p.N587N NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 587 Kelch 5. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CCAGGTATAACGAGGAGGAGA 0.582000 DRD3 1814 broad.mit.edu 37 3 113890790 113890790 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:113890790G>A uc003ebd.2 - 3 473 c.50C>T c.(49-51)GCA>GTA p.A17V DRD3_uc010hqn.1_Missense_Mutation_p.A17V|DRD3_uc003ebb.1_Missense_Mutation_p.A17V|DRD3_uc003ebc.1_Missense_Mutation_p.A17V NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 17 Extracellular (Probable). activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGAGTTCTCTGCCCCACAGGT 0.617000 TMEM108 66000 broad.mit.edu 37 3 133099271 133099271 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:133099271C>T uc003eph.2 + 4 990 c.716C>T c.(715-717)ACC>ATC p.T239I TMEM108_uc003epi.2_Missense_Mutation_p.T239I|TMEM108_uc003epj.1_Missense_Mutation_p.T239I|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T190I NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 239 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 ACCCCCAGGACCCCACTCTGG 0.627000 P2RY12 64805 broad.mit.edu 37 3 151056447 151056447 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:151056447G>A uc003eyw.1 - 2 403 c.187C>T c.(187-189)CTT>TTT p.L63F MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L63F|P2RY12_uc003eyx.1_Missense_Mutation_p.L63F NM_176876 NP_795345 Q9H244 P2Y12_HUMAN purinergic receptor P2Y12 63 Helical; Name=2; (Potential). platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) GTGTTCTTAAGAAAAATAATA 0.368000 ZMAT3 64393 broad.mit.edu 37 3 178785396 178785396 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr3:178785396C>T uc003fjg.2 - 2 404 c.145G>A c.(145-147)GGG>AGG p.G49R ZMAT3_uc010hxa.2_Missense_Mutation_p.G49R|ZMAT3_uc003fji.2_Missense_Mutation_p.G49R NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 49 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) TCTTCTTCCCCTGCAAGAGGC 0.557000 RGS12 6002 broad.mit.edu 37 4 3317869 3317869 + Translation_Start_Site SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:3317869C>T uc003ggw.2 + 2 876 c.-28C>T c.(-30--26)GACGT>GATGT RGS12_uc003ggu.2_Translation_Start_Site|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Translation_Start_Site|RGS12_uc003ggx.1_Translation_Start_Site NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AACAATGAGACGTGCTCTTGG 0.507000 CCDC96 257236 broad.mit.edu 37 4 7043264 7043264 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:7043264C>T uc003gjv.2 - 1 1465 c.1402G>A c.(1402-1404)GAG>AAG p.E468K TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 468 0 GCCTGGGCCTCGATTTCTGCC 0.547000 AFAP1 60312 broad.mit.edu 37 4 7795508 7795508 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:7795508C>T uc003gkg.1 - 11 1585 c.1312G>A c.(1312-1314)GCA>ACA p.A438T AFAP1_uc011bwk.1_Missense_Mutation_p.A438T NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 438 PH 2. actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 CCCGTCTCTGCGAGTAAAATC 0.453000 TMPRSS11F 389208 broad.mit.edu 37 4 68964625 68964625 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:68964625A>C uc003hdt.1 - 2 192 c.143T>G c.(142-144)GTT>GGT p.V48G NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 48 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AAAATGAGTAACAATACCAAT 0.373000 YTHDC1 91746 broad.mit.edu 37 4 69197837 69197837 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:69197837G>C uc003hdx.2 - 7 1459 c.1106C>G c.(1105-1107)TCT>TGT p.S369C YTHDC1_uc003hdy.2_Missense_Mutation_p.S351C NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 369 YTH. upper_aerodigestive_tract(1)|ovary(1) 2 TTTGGCAAGAGACACATTCTC 0.313000 DDIT4L 115265 broad.mit.edu 37 4 101109017 101109017 + Silent SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:101109017A>C uc003hvq.2 - 3 602 c.399T>G c.(397-399)ACT>ACG p.T133T NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 133 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TAAGCTCAAAAGTAGGTACGA 0.438000 TRPC3 7222 broad.mit.edu 37 4 122853995 122853995 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:122853995C>T uc003ieg.2 - 2 492 c.418G>A c.(418-420)GTC>ATC p.V140I TRPC3_uc010inr.2_Missense_Mutation_p.V67I|TRPC3_uc003ief.2_Missense_Mutation_p.V67I|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 55 Cytoplasmic (Potential).|ANK 1. axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ACGCAGTTGACGTTCAGCGTC 0.637000 VEGFC 7424 broad.mit.edu 37 4 177608362 177608362 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr4:177608362T>C uc003ius.1 - 6 1554 c.1124A>G c.(1123-1125)AAG>AGG p.K375R NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 375 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GTGGTGGAACTTCTTTCCTTT 0.368000 ADCY2 108 broad.mit.edu 37 5 7698445 7698445 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:7698445A>G uc003jdz.1 + 7 1134 c.1067A>G c.(1066-1068)AAG>AGG p.K356R ADCY2_uc011cmo.1_Missense_Mutation_p.K176R NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 356 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AACCATGCCAAGAACTGTGTG 0.333000 CDH10 1008 broad.mit.edu 37 5 24537713 24537713 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:24537713A>G uc003jgr.1 - 3 634 c.302T>C c.(301-303)CTT>CCT p.L101P CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 101 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AATAATAAAAAGAGTACCAGC 0.373000 HNSCC(23;0.051) ADAMTS12 81792 broad.mit.edu 37 5 33549454 33549454 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:33549454C>T uc003jia.1 - 21 4323 c.4160G>A c.(4159-4161)CGC>CAC p.R1387H ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1302H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1387 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTGAATCTCGCGTATCTTGAA 0.557000 HNSCC(64;0.19) GPR98 84059 broad.mit.edu 37 5 90012394 90012394 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:90012394G>A uc003kju.2 + 43 9391 c.9295G>A c.(9295-9297)GCA>ACA p.A3099T GPR98_uc003kjt.2_Missense_Mutation_p.A805T|GPR98_uc003kjv.2_Missense_Mutation_p.A699T NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3099 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAGAGTGTTGCAGTATTGTA 0.428000 PCDHA6 56142 broad.mit.edu 37 5 140209731 140209731 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:140209731C>T uc003lho.2 + 1 2082 c.2055C>T c.(2053-2055)GGC>GGT p.G685G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G685G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 685 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGTGGGCGCCGCGGGCC 0.662000 PCDHGA6 56109 broad.mit.edu 37 5 140755518 140755518 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:140755518C>T uc003ljy.1 + 1 1868 c.1868C>T c.(1867-1869)ACG>ATG p.T623M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T623M NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 623 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTGCACACGGGCGAGGTG 0.692000 EXOC2 55770 broad.mit.edu 37 6 564037 564037 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:564037C>T uc003mtd.2 - 16 1919 c.1785G>A c.(1783-1785)GCG>GCA p.A595A EXOC2_uc003mte.2_Silent_p.A595A|EXOC2_uc011dho.1_Silent_p.A190A NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 595 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) ACACACCTTCCGCCGTGTGCT 0.453000 MDC1 9656 broad.mit.edu 37 6 30675783 30675783 + Missense_Mutation SNP T T C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:30675783T>C uc003nrg.3 - 8 3013 c.2573A>G c.(2572-2574)GAC>GGC p.D858G MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 858 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TTGTTCTCTGTCCTGTTTCCC 0.458000 Other_conserved_DNA_damage_response_genes ATF6B 1388 broad.mit.edu 37 6 32095981 32095981 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:32095981C>T uc003nzn.2 - 1 37 c.4G>A c.(4-6)GCG>ACG p.A2T ATF6B_uc003nzo.2_Missense_Mutation_p.A2T|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_Missense_Mutation_p.A2T NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 2 Cytoplasmic (Potential).|Transcription activation. response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ATCAGCTCCGCCATCTTTCCC 0.612000 SLC29A1 2030 broad.mit.edu 37 6 44197722 44197722 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:44197722G>A uc003owu.1 + 5 722 c.393G>A c.(391-393)AAG>AAA p.K131K SLC29A1_uc011dvp.1_Silent_p.K150K|SLC29A1_uc003owv.1_Silent_p.K131K|SLC29A1_uc003oww.1_Silent_p.K210K|SLC29A1_uc011dvq.1_Silent_p.K173K|SLC29A1_uc003owx.1_Silent_p.K131K|SLC29A1_uc003owy.1_Silent_p.K131K|SLC29A1_uc003owz.1_Silent_p.K131K NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 131 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCCTGGTGAAGGTGCAGCTGG 0.587000 CD2AP 23607 broad.mit.edu 37 6 47547178 47547178 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:47547178C>T uc003oyw.2 + 9 1417 c.961C>T c.(961-963)CCA>TCA p.P321S NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 321 SH3 3. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AGGAGTATTTCCAGACAATTT 0.343000 PKHD1 5314 broad.mit.edu 37 6 51637574 51637574 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:51637574T>G uc003pah.1 - 55 8844 c.8568A>C c.(8566-8568)AAA>AAC p.K2856N PKHD1_uc010jzn.1_Missense_Mutation_p.K839N|PKHD1_uc003pai.2_Missense_Mutation_p.K2856N NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2856 G8 2.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AAAGATGAACTTTCCCATAAA 0.408000 C6orf142 90523 broad.mit.edu 37 6 53989433 53989433 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:53989433G>C uc003pcg.3 + 3 495 c.382G>C c.(382-384)GAA>CAA p.E128Q C6orf142_uc003pcf.2_Missense_Mutation_p.E128Q|C6orf142_uc003pch.3_Missense_Mutation_p.E66Q|C6orf142_uc011dwz.1_Missense_Mutation_p.E87Q|C6orf142_uc011dxa.1_Missense_Mutation_p.E139Q NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 128 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CTTCAAAGCTGAATATGTCCT 0.498000 SNX14 57231 broad.mit.edu 37 6 86238069 86238069 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:86238069C>T uc003pkr.2 - 20 2099 c.1906G>A c.(1906-1908)GAT>AAT p.D636N SNX14_uc003pkp.2_Missense_Mutation_p.D499N|SNX14_uc003pkq.2_Missense_Mutation_p.D242N|SNX14_uc011dzg.1_Missense_Mutation_p.D584N|SNX14_uc003pks.2_Missense_Mutation_p.D583N|SNX14_uc003pkt.2_Missense_Mutation_p.D627N NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 636 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AGCTGGGCATCAGGAAATGCA 0.318000 TAAR2 9287 broad.mit.edu 37 6 132938378 132938378 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:132938378G>A uc003qdl.1 - 2 967 c.967C>T c.(967-969)CGC>TGC p.R323C TAAR2_uc010kfr.1_Missense_Mutation_p.R278C NM_001033080 NP_001028252 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 isoform 1 323 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AGTGCTCTGCGAAACCAGGGA 0.363000 SYNE1 23345 broad.mit.edu 37 6 152485429 152485429 + Missense_Mutation SNP C C T rs143842011 byFrequency TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:152485429C>T uc010kiw.2 - 131 24261 c.23659G>A c.(23659-23661)GTG>ATG p.V7887M SYNE1_uc010kiv.2_Missense_Mutation_p.V2411M|SYNE1_uc003qos.3_Missense_Mutation_p.V2411M|SYNE1_uc003qot.3_Missense_Mutation_p.V7816M|SYNE1_uc003qou.3_Missense_Mutation_p.V7887M|SYNE1_uc003qop.3_Missense_Mutation_p.V49M|SYNE1_uc011eez.1_Missense_Mutation_p.V89M|SYNE1_uc003qoq.3_Missense_Mutation_p.V89M|SYNE1_uc003qor.3_Missense_Mutation_p.V787M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7887 Spectrin 28.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCTGCTGCACGGCTACCAGG 0.557000 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152711423 152711423 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr6:152711423G>A uc010kiw.2 - 53 8771 c.8169C>T c.(8167-8169)CAC>CAT p.H2723H SYNE1_uc003qot.3_Silent_p.H2730H|SYNE1_uc003qou.3_Silent_p.H2723H|SYNE1_uc010kjb.1_Silent_p.H2706H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2723 Cytoplasmic (Potential).|HAT 5. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCTTTGAGCGTGGACGGAGG 0.458000 HNSCC(10;0.0054) ZNF804B 219578 broad.mit.edu 37 7 88965033 88965033 + Missense_Mutation SNP T T G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr7:88965033T>G uc011khi.1 + 4 3275 c.2737T>G c.(2737-2739)TCA>GCA p.S913A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 913 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AACCACAGAATCAAACACTGC 0.428000 HNSCC(36;0.09) COL1A2 1278 broad.mit.edu 37 7 94057073 94057073 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr7:94057073A>C uc003ung.1 + 49 3873 c.3402A>C c.(3400-3402)GAA>GAC p.E1134D COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1134 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGGACTATGAAGTTGATGCTA 0.507000 HNSCC(75;0.22) PDAP1 11333 broad.mit.edu 37 7 98994334 98994334 + Missense_Mutation SNP G G C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr7:98994334G>C uc003uqe.2 - 6 638 c.517C>G c.(517-519)CGA>GGA p.R173G NM_014891 NP_055706 Q13442 HAP28_HUMAN PDGFA associated protein 1 173 cell proliferation|signal transduction 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) GACTGCATTCGTTTTCCTGAC 0.597000 CPA5 93979 broad.mit.edu 37 7 129999462 129999462 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr7:129999462G>A uc010lmd.1 + 7 986 c.366G>A c.(364-366)GCG>GCA p.A122A CPA5_uc003vps.2_Silent_p.A122A|CPA5_uc003vpt.2_Silent_p.A122A|CPA5_uc010lme.1_Silent_p.A122A|CPA5_uc003vpu.1_Silent_p.A122A NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 122 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) AGGCCATGGCGAAATCCCGCC 0.592000 CSMD1 64478 broad.mit.edu 37 8 2820151 2820151 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:2820151G>A uc011kwk.1 - 61 9858 c.9468C>T c.(9466-9468)TGC>TGT p.C3156C CSMD1_uc011kwj.1_Silent_p.C2485C|CSMD1_uc010lrg.2_Silent_p.C1047C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3156 Extracellular (Potential).|Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGGTCTCCGCAGAACACAG 0.468000 CSMD1 64478 broad.mit.edu 37 8 3245020 3245020 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:3245020G>A uc011kwk.1 - 18 3171 c.2781C>T c.(2779-2781)TGC>TGT p.C927C CSMD1_uc011kwj.1_Silent_p.C319C|CSMD1_uc003wqe.2_Silent_p.C83C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 927 Extracellular (Potential).|Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCTACCGTCGCAGCTGGGCA 0.587000 CSMD1 64478 broad.mit.edu 37 8 3253803 3253803 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:3253803A>C uc011kwk.1 - 17 2899 c.2509T>G c.(2509-2511)TTC>GTC p.F837V CSMD1_uc011kwj.1_Missense_Mutation_p.F229V|CSMD1_uc003wqe.2_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 837 Extracellular (Potential).|CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGATGAGGAACTGGGGTGCC 0.557000 SOX7 83595 broad.mit.edu 37 8 10583429 10583429 + Missense_Mutation SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:10583429C>T uc003wtf.2 - 2 1065 c.986G>A c.(985-987)CGC>CAC p.R329H SOX7_uc011kwz.1_Missense_Mutation_p.R381H NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 329 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GAATTCATTGCGATCCATGTC 0.622000 SH2D4A 63898 broad.mit.edu 37 8 19192367 19192367 + Missense_Mutation SNP G G A rs75590099 by1000genomes TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:19192367G>A uc003wzb.2 + 4 848 c.512G>A c.(511-513)CGA>CAA p.R171Q SH2D4A_uc011kym.1_Missense_Mutation_p.R126Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.R171Q NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 171 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) GAGAAAATCCGAGTGAGTCCT 0.498000 ARFGEF1 10565 broad.mit.edu 37 8 68165687 68165687 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:68165687C>A uc003xxo.1 - 18 3087 c.2697G>T c.(2695-2697)CAG>CAT p.Q899H ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q353H NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 899 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GATACTTACTCTGTTTACTTG 0.269000 PREX2 80243 broad.mit.edu 37 8 69104587 69104587 + Silent SNP C C T rs137974526 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:69104587C>T uc003xxv.1 + 37 4458 c.4431C>T c.(4429-4431)AAC>AAT p.N1477N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1477 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GGCCTCTCAACGCTTTGGATG 0.433000 ZFHX4 79776 broad.mit.edu 37 8 77765163 77765163 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:77765163G>A uc003yav.2 + 10 6258 c.5871G>A c.(5869-5871)ACG>ACA p.T1957T ZFHX4_uc003yau.1_Silent_p.T2002T|ZFHX4_uc003yaw.1_Silent_p.T1957T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1957 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCCAGAAACGccgcccccgc 0.318000 HNSCC(33;0.089) SDC2 6383 broad.mit.edu 37 8 97620628 97620628 + Silent SNP C C T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:97620628C>T uc003yhv.1 + 4 990 c.372C>T c.(370-372)GCC>GCT p.A124A SDC2_uc011lgu.1_Silent_p.A95A NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 124 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) TGGACCCAGCCGAAGAGGATA 0.453000 DCAF13 25879 broad.mit.edu 37 8 104453766 104453766 + Silent SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:104453766A>T uc003yln.2 + 10 1903 c.1626A>T c.(1624-1626)ATA>ATT p.I542I DCAF13_uc003ylo.2_Silent_p.I253I NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 390 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 TAAAACGTATAGCTCGTCATC 0.373000 COL14A1 7373 broad.mit.edu 37 8 121219265 121219265 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:121219265C>A uc003yox.2 + 10 1388 c.1123C>A c.(1123-1125)CAT>AAT p.H375N COL14A1_uc003yoy.2_Missense_Mutation_p.H53N|COL14A1_uc010mde.1_Missense_Mutation_p.H53N NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 375 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAACTGGACTCATGCCCCAGG 0.433000 TSTA3 7264 broad.mit.edu 37 8 144696357 144696357 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:144696357G>A uc003yza.2 - 7 676 c.640C>T c.(640-642)CGG>TGG p.R214W TSTA3_uc003yzb.2_Missense_Mutation_p.R214W NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 214 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity pancreas(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) AACTGCCTCCGCGGATTCCCT 0.637000 UHRF2 115426 broad.mit.edu 37 9 6460623 6460623 + Missense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:6460623G>A uc003zjy.2 + 4 1035 c.695G>A c.(694-696)CGA>CAA p.R232Q UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Missense_Mutation_p.R9Q NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 232 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CTTAGACCACGAGCTAGAACC 0.373000 BNC2 54796 broad.mit.edu 37 9 16437105 16437105 + Missense_Mutation SNP A A T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:16437105A>T uc003zml.2 - 6 1227 c.1087T>A c.(1087-1089)TAT>AAT p.Y363N BNC2_uc011lmw.1_Missense_Mutation_p.Y268N|BNC2_uc003zmm.2_Missense_Mutation_p.Y321N|BNC2_uc003zmq.1_Missense_Mutation_p.Y377N|BNC2_uc003zmr.1_Missense_Mutation_p.Y400N|BNC2_uc003zmp.1_Missense_Mutation_p.Y391N|BNC2_uc010mij.1_Missense_Mutation_p.Y285N|BNC2_uc011lmv.1_Missense_Mutation_p.Y189N|BNC2_uc003zmo.1_Missense_Mutation_p.Y285N|BNC2_uc003zmj.2_Missense_Mutation_p.Y128N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.Y128N|BNC2_uc003zmn.1_Missense_Mutation_p.Y128N NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CTCTCATTATATTCATTCTGA 0.488000 MAMDC2 256691 broad.mit.edu 37 9 72746492 72746492 + Missense_Mutation SNP A A G rs139503678 TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:72746492A>G uc004ahm.2 + 7 1575 c.958A>G c.(958-960)ATT>GTT p.I320V MAMDC2_uc004ahn.2_RNA NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 320 MAM 2. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 CCTGGATGATATTTCATTCTC 0.408000 GALNT12 79695 broad.mit.edu 37 9 101589068 101589068 + Silent SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:101589068G>A uc004ayz.2 + 3 576 c.576G>A c.(574-576)TCG>TCA p.S192S NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 192 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) ATGAGCTTTCGGGACTGCCCA 0.642000 ALDOB 229 broad.mit.edu 37 9 104187255 104187255 + Missense_Mutation SNP C C A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:104187255C>A uc004bbk.2 - 8 951 c.869G>T c.(868-870)TGC>TTC p.C290F NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 290 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGGTAGAGGGCAAAGGTTGAT 0.522000 HSDL2 84263 broad.mit.edu 37 9 115216406 115216406 + Missense_Mutation SNP A A G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:115216406A>G uc004bga.1 + 9 1072 c.979A>G c.(979-981)AAA>GAA p.K327E HSDL2_uc011lwv.1_Missense_Mutation_p.K206E|HSDL2_uc004bgb.1_Missense_Mutation_p.K161E|HSDL2_uc004bgc.1_Missense_Mutation_p.K254E|HSDL2_uc011lww.1_Missense_Mutation_p.K122E NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 327 SCP2. peroxisome oxidoreductase activity|sterol binding 0 TGATGTTGTTAAAGCCACTCA 0.398000 TLR4 7099 broad.mit.edu 37 9 120475218 120475218 + Missense_Mutation SNP A A C TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:120475218A>C uc004bjz.2 + 3 1103 c.812A>C c.(811-813)AAG>ACG p.K271T TLR4_uc004bka.2_Missense_Mutation_p.K231T|TLR4_uc004bkb.2_Missense_Mutation_p.K71T NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 271 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AACTTGGAAAAGTTTGACAAA 0.358000 BCOR 54880 broad.mit.edu 37 X 39932171 39932171 + Nonsense_Mutation SNP G G A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chrX:39932171G>A uc004den.3 - 4 2720 c.2428C>T c.(2428-2430)CGA>TGA p.R810* BCOR_uc004dep.3_Nonsense_Mutation_p.R810*|BCOR_uc004deo.3_Nonsense_Mutation_p.R810*|BCOR_uc004dem.3_Nonsense_Mutation_p.R810*|BCOR_uc004deq.3_Nonsense_Mutation_p.R810* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 810 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GGTTCTTCTCGGAGAAGGTCT 0.522000 SPRYD5 84767 broad.mit.edu 37 11 55653609 55653610 + Frame_Shift_Ins INS - - A TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:55653609_55653610insA uc010rip.1 + 3 514_515 c.422_423insA c.(421-423)CTAfs p.L141fs SPRYD5_uc010riq.1_5'UTR NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 141 intracellular zinc ion binding 0 all_epithelial(135;0.226) GAGGAGCTCCTAAAAAAAATGC 0.401 PELI3 246330 broad.mit.edu 37 11 66241318 66241318 + Frame_Shift_Del DEL T T - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:66241318delT uc001oic.3 + 7 926 c.762delT c.(760-762)GGTfs p.G254fs PELI3_uc001oib.2_Frame_Shift_Del_p.G254fs|PELI3_uc001oid.3_Frame_Shift_Del_p.G230fs|PELI3_uc001oie.3_Frame_Shift_Del_p.G105fs|PELI3_uc010rpd.1_Frame_Shift_Del_p.G95fs NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 254 cytosol protein binding ovary(1) 1 CAGCCCCGGGTGTCTGGCGGG 0.647 OR1L4 254973 broad.mit.edu 37 9 125486451 125486452 + Frame_Shift_Ins INS - - T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:125486451_125486452insT uc004bmu.1 + 1 183_184 c.183_184insT c.(181-186)TACTTTfs p.Y61fs NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 61_62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCCTATGTACTTTTTTCTCAG 0.446 PCDHGC5 56097 broad.mit.edu 37 5 140792993 140792998 + In_Frame_Del DEL GCAGCG GCAGCG - rs138985917 by1000genomes TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr5:140792992_140792997CGCAGCG>C uc003lkl.2 + 0 250_255 c.250_255CGCAGCG>C c.(250-255)cgcagc>C p.RS84del PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_In_Frame_Del_p.RS84del NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 80 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGAACCCGCGCAGCGGCAGCTTGA 0.621 CSPP1 79848 broad.mit.edu 37 8 68105772 68105773 + Frame_Shift_Del DEL TT TT - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr8:68105771_68105772CTT>C uc003xxi.3 + 29 3524_3525 c.3493_3494CTT>C c.(3493-3495)cttfs p.L1165fs ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Frame_Shift_Del_p.L1130fs|CSPP1_uc003xxk.3_Frame_Shift_Del_p.L785fs|CSPP1_uc010lyw.3_Intron NM_024790 NP_079066 Q1MSJ5 CSPP1_HUMAN Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA. 1165 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGTTGATGAGCTTAGAGTGAGA 0.366 OR1L4 254973 broad.mit.edu 37 9 125486452 125486453 + Frame_Shift_Ins INS - - T TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr9:125486451_125486452C>CT uc004bmu.1 + 0 183_184 c.183_184C>CT c.(181-186)tactttfs p.Y61fs NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CCCCTATGTACTTTTTTCTCAG 0.446 OR4C16 219428 broad.mit.edu 37 11 55339686 55339686 + Frame_Shift_Del DEL T T - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr11:55339685_55339685AT>A uc010rih.2 + 0 82 c.82_82AT>A c.(82-84)attfs p.I28fs NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AGTGTTTGTTATTTTTTTGCG 0.388 PRSS53 339105 broad.mit.edu 37 16 31098992 31098993 + Frame_Shift_Ins INS - - G TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr16:31098991_31098992T>TG uc002eaq.3 - 2 108_109 c.108_109A>CA c.(106-111)cccaagfs p.P36fs PRSS53_uc002ear.3_5'UTR NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN Homo sapiens protease, serine, 53 (PRSS53), mRNA. 36 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 TCCTGAGGCTTGGGGGGGCCGG 0.649 ARHGAP27 201176 broad.mit.edu 37 17 43481878 43481878 + Frame_Shift_Del DEL G G - TCGA-CG-5724-01A-11D-1600-08 TCGA-CG-5724-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dac8ca0-f776-4ea2-85c4-aefba4966be7 8c55d79f-356a-4589-8403-cdfed8311550 g.chr17:43481877_43481877AG>A uc002iix.3 - 4 773 c.324_324CT>T c.(322-324)cctfs p.P108fs ARHGAP27_uc010dak.3_Frame_Shift_Del_p.P81fs|ARHGAP27_uc010wjl.1_Frame_Shift_Del_p.P249fs NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA. 449 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GGATGCTTCGAGGGGCAGGGA 0.602